Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TERT_chr5_1248167_1300068	1272891	A A	ACATCAGA others(92): Show ACATCAGACCCCACGACCACCATCCACAGTCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	392	0.0026	99	c.228 others(116): Show c.2287-612_2287-611insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGA TGGTGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(92): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0378 a0002c0033t0001g0378	1	392	0.0026	99	c.228 others(118): Show c.2287-1123_2287-1122insACTGTGGATGGTGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(92): Show CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACCACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0231 a0001c0001t0003g0122 a0001c0001t0001g0231 a0001c0001t0003g0122	2	392	0.0051	99	c.228 others(118): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGCGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTG ATGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFDP2_chr3_141939428_142154544	141968383	C C	CATATATA others(92): Show CATATATATAACATATATATCATATATATAACATATATATAACATATATA TCATATATATAACATATATATCATATATAACATATATATCTCATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0135 a0001c0001t0116g0135	1	252	0.0040	99	c.732 others(116): Show c.732+1689_732+1690insCTATATATGAGATATATATGTTATATAT GATATATATGTTATATATATGATATATATGTTATATATATGTTATATATA TGATATATATGTTATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
THBS2_chr6_169210785_169258846	169242691	T T	TCTTCCCA others(92): Show TCTTCCCACCTTCCCACCACTCCCGCCTTCCCACCTTCCCACCGCTCCCA CCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	396	0.0025	99	c.695 others(114): Show c.695-734_695-733insGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGCGGGA GTGGTGGGAAGGTGGGAAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242858	T T	TTCCCACC others(92): Show TTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCT TCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0313 a0001c0019t0014g0313	1	396	0.0025	99	c.695 others(114): Show c.695-901_695-900insGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATG GGAAGATGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242993	G G	GCACCTTC others(92): Show GCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCGCTCC CACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACTGCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(24): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01496.hp2 HG02055.hp2 HG02622.hp2 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp2 HG03834.hp1 HG04228.hp1 NA18963.hp2 NA18970.hp2 NA18998.hp1 NA19000.hp1 NA19064.hp1 NA19070.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0014c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0037 a0001c0002t0002 a0001c0003t0002 a0001c0004t0003 a0001c0005t0001 a0001c0006t0006 a0014c0045t0002	a0001c0001t0001g0124 a0001c0001t0001g0223 a0001c0001t0001g0234 others(23): Show a0001c0001t0001g0124 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0003g0021 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0295 a0001c0001t0013g0296 a0001c0001t0037g0233 a0001c0002t0002g0195 a0001c0002t0002g0214 a0001c0002t0002g0235 a0001c0002t0002g0288 a0001c0003t0002g0068 a0001c0003t0002g0194 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0005t0001g0321 a0001c0006t0006g0238 a0001c0006t0006g0239 a0001c0006t0006g0240 a0014c0045t0002g0231	27	396	0.0682	99	c.695 others(116): Show c.695-1134_695-1036dupGGAGCAGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA ATGTGGGAAGGTGGGAAGGTG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEM4_chr1_151865866_151914511	151867586	T T	TCTTCTTC others(92): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	374	0.0027	99	c.73 others(110): Show c.7301_*7302insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3279		chr1	TogoVar
THEM4_chr1_151865866_151914511	151867586	T T	TCTTCTTC others(92): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	374	0.0027	99	c.73 others(110): Show c.7301_*7302insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3279		chr1	TogoVar
THEM4_chr1_151865866_151914511	151867586	T T	TCTTCTTC others(92): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 NA18747.hp1 NA18968.hp1 others(4): Show HG01106.hp2 NA18747.hp1 NA18968.hp1 NA18968.hp2 NA19002.hp1 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 a0001c0001t0002 a0001c0001t0003 a0001c0008t0003	a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0248 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0248 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0161 a0001c0008t0003g0174	7	374	0.0187	99	c.73 others(110): Show c.7301_*7302insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3279		chr1	TogoVar
THEM4_chr1_151865866_151914511	151867586	T T	TCTTCTTC others(92): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	374	0.0027	99	c.73 others(110): Show c.7301_*7302insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3279		chr1	TogoVar
THEM4_chr1_151865866_151914511	151867592	T T	TCTTCTTC others(92): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0104 a0001c0001t0029g0104	1	374	0.0027	99	c.72 others(110): Show c.7295_*7296insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3273		chr1	TogoVar
THEMIS_chr6_127703200_127906058	127746711	C C	CTATAATT others(92): Show CTATAATTATATATTATTATATAATTATATTATATATAATTATATATTAT TATATAATTATATTATATATAATTATATATTATTATATAATTATATTATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02004.hp1 NA18990.hp1 others(1): Show HG01106.hp2 HG02004.hp1 NA18990.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0160 a0001c0003t0001g0161 others(1): Show a0001c0003t0001g0136 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162	4	223	0.0179	99	c.175 others(120): Show c.1759-26987_1759-26889dupTATAATATAATTATATAATAATAT ATAATTATATATAATATAATTATATAATAATATATAATTATATATAATAT AATTATATAATAATATATAATTATA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155018666	C C	CCTCCCCC others(92): Show CCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTTCCCTTCCCTCC CCTCCCCCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	230	0.0044	99	c.-20 others(120): Show c.-209+23180_-209+23181insCTCCCCTCCCCTCCCCCCCCTCCC CTCCCCTTCCCTTCCCTCCCCTCCCCCCCCTCCTCTCCCCTCCCCTCCCC TCCCCTCCCCTTCCCTCCGCTCCCC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028933	C C	CTGTGTTA others(92): Show CTGTGTTATATACTACGTATAATATATATACTGTGTTATATACTACATGT AATATATATACTGTGTTATATACTACATGTAATATATATACTGTGTTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp1 HG01891.hp2 HG03209.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0064 a0001c0002 a0016c0064	a0001c0002t0022 a0016c0064t0039 a0001c0002t0022 a0016c0064t0039	a0001c0002t0022g0181 a0016c0064t0039g0068 a0001c0002t0022g0181 a0016c0064t0039g0068	2	230	0.0087	99	c.-20 others(120): Show c.-209+33442_-209+33443insGTGTTATATACTACGTATAATATA TATACTGTGTTATATACTACATGTAATATATATACTGTGTTATATACTAC ATGTAATATATATACTGTGTTATAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TLR5_chr1_223104404_223148248	223119983	A A	AAAATAAA others(92): Show AAAATAAAATAAAATAAAATAATAAAATAAAATAAAATAAATAAAATAAA ATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0022 a0005c0007t0022	a0005c0007t0022g0323 a0005c0007t0022g0323	1	368	0.0027	99	c.-4- others(114): Show c.-4-6949_-4-6948insATTTTATTTATTTTATTTTATTTTATTTTA TTTTATTTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATT ATTTTATTTTATTTTATTT	TLR5	ENSG00000187554.14	transcript	ENST00000642603.2	protein_coding	5/5			chr1	TogoVar
TLR5_chr1_223104404_223148248	223119992	T T	TAAAATAA others(92): Show TAAAATAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAA AATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0187 a0003c0003t0001g0187	1	368	0.0027	99	c.-4- others(114): Show c.-4-6958_-4-6957insTTTTATTTTTTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTATTTTATTTTATTTTATTTATTTTATTTTATTT TATTTTATTTTATTATTTT	TLR5	ENSG00000187554.14	transcript	ENST00000642603.2	protein_coding	5/5			chr1	TogoVar
TM4SF1_chr3_149364022_149382649	149380218	C C	CGGGAGGG others(92): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCTGCCCGACCAGCCGCCCCGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	99	c.-26 others(110): Show c.-2672_-2671insCGGACGGGGCGGCTGGTCGGGCAGGGGGCTGATC CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC CCCCACCTCCCTCCC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2570		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380250	G G	GCCAGCCG others(92): Show GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCCGA CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCGGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	99	c.-27 others(110): Show c.-2704_-2703insGCCGGGCCGGGGGCTGACTCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCAGGGGGCTGATCCCCCCACCTCCCTCCC AGACGGGGCGGCTGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2602		chr3	TogoVar
TMC1_chr9_72516608_72843297	72841238	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02258.hp1 others(7): Show HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 others(6): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0003t0014 a0001c0003t0017 a0001c0003t0022 a0001c0003t0024 a0001c0003t0035	a0001c0001t0011g0145 a0001c0001t0011g0151 a0001c0001t0014g0080 others(7): Show a0001c0001t0011g0145 a0001c0001t0011g0151 a0001c0001t0014g0080 a0001c0001t0020g0071 a0001c0001t0021g0070 a0001c0003t0014g0012 a0001c0003t0017g0102 a0001c0003t0022g0090 a0001c0003t0024g0030 a0001c0003t0035g0008	10	182	0.0550	99	c.52 others(110): Show c.5265_*5266insCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGAC	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		2942		chr9	TogoVar
TMCC3_chr12_94562122_94655557	94593384	A A	AAGAAGAA others(92): Show AAGAAGAAAGGAAGAAGAAAGGAAGAAGAAAAGAAGAGGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	378	0.0027	99	c.79- others(116): Show c.79-10847_79-10846insCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTTTCTTCTT CCTTTCTTCTTCCTTTCTTCT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMEFF2_chr2_191944046_192199933	192037322	A A	AAAGAAAG others(92): Show AAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	164	0.0061	99	c.536 others(118): Show c.536+20356_536+20357insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTC TTTCTTTCCTTTCTTTCTTTCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608203	A A	AAGGACAG others(92): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	222	0.0045	99	c.323 others(118): Show c.323-56113_323-56112insCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCA GCACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134609590	T T	TCCCGAGA others(92): Show TCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGT GAAAAGGAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAAGACAGAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0222 a0001c0003t0001g0222	1	222	0.0045	99	c.323 others(118): Show c.323-57500_323-57499insGTCTGTCTTCCTTTTCACCAGTACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGG	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM242_chr6_157284025_157328519	157312403	A A	AACCTAGC others(92): Show AACCTAGCCTCATCATAGTGTCCCAGATTGCACTCAACTGGCCTCATCAT AGTGCCCCAGTGTGCGCTCACCTAGCCACATCATAGTGTCCCAGTGTGCG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	344	0.0029	99	c.327 others(116): Show c.327+6378_327+6379insCGCACACTGGGACACTATGATGTGGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCCAGTTGAGTGCAATCTGG GACACTATGATGAGGCTAGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474683	G G	GATGAGGG others(92): Show GATGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGT GAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	382	0.0026	99	c.728 others(116): Show c.728-1188_728-1187insTCACCCCTTCACCCCCTCACTCACCCCC TCACTCACCCCTTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCA CCCCCTCACTCACTCCCTCAT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474751	G G	GGTGGGGT others(92): Show GGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAGGAGGTGAG TGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	382	0.0026	99	c.728 others(116): Show c.728-1256_728-1255insGCCTTCACCCCCTCACCCCCTCACTCAC CCCCTCACTCCCTCAACCCTCACTCACCTCCTCACCTCCTCACTCTCCCC CTCATCCCTCCCTCACCCCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TPGS1_chr19_502497_524654	523158	A A	AGTGAGCA others(92): Show AGTGAGCACGGGCCGGGGGCTCAGCAGCAATTCCGGTGAGCACGGGCCGG GGGCTCGGCATTTCCAGTGAGCACGGGCCGGGTGCTCCGCAGCATTTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA19240.hp1 HG02622.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0032 a0001c0001 a0002c0032	a0001c0001t0004 a0002c0032t0004 a0001c0001t0004 a0002c0032t0004	a0001c0001t0004g0051 a0002c0032t0004g0171 a0001c0001t0004g0051 a0002c0032t0004g0171	2	344	0.0058	99	c.37 others(110): Show c.3735_*3736insGTGAGCACGGGCCGGGGGCTCAGCAGCAATTCCG GTGAGCACGGGCCGGGGGCTCGGCATTTCCAGTGAGCACGGGCCGGGTGC TCCGCAGCATTTCCG	TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding		3505		chr19	TogoVar
TPSB2_chr16_1223336_1235184	1231415	A A	ACTAGTCC others(92): Show ACTAGTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCC AGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(72): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18959.hp1 NA18962.hp1 NA18984.hp2 NA18986.hp2 NA18997.hp1 NA19003.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0012 a0014 a0015	a0001c0001 a0002c0002 a0002c0008 others(7): Show a0001c0001 a0002c0002 a0002c0008 a0002c0010 a0003c0003 a0005c0005 a0005c0007 a0012c0028 a0014c0027 a0015c0029	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0008t0003 a0002c0010t0002 a0003c0003t0002 a0005c0005t0005 a0005c0007t0005 a0012c0028t0002 a0014c0027t0002 a0015c0029t0002	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0011 others(15): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0016 a0002c0002t0002g0042 a0002c0002t0003g0005 a0002c0002t0003g0032 a0002c0002t0010g0043 a0002c0008t0003g0008 a0002c0010t0002g0022 a0002c0010t0002g0045 a0002c0010t0002g0047 a0003c0003t0002g0041 a0005c0005t0005g0020 a0005c0007t0005g0007 a0012c0028t0002g0044 a0014c0027t0002g0036 a0015c0029t0002g0046	75	344	0.2180	99	c.-12 others(110): Show c.-1255_-1254insACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTC CATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCC GGGGGCTGGGACTAG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1232		chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231415	A A	ACTAGTCC others(92): Show ACTAGTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCGCCAGCTCC AGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	344	0.0029	99	c.-12 others(110): Show c.-1255_-1254insACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTC CATGGGGAGCTGGGCTGGAGCTGGCGGTGAGACCATGGGGAGCTGGGGCC GGGGGCTGGGACTAG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1232		chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231415	A A	ACTAGTCC others(92): Show ACTAGTCCCAGCCCCTGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCC AGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0007 a0005c0007t0005g0007	1	344	0.0029	99	c.-12 others(110): Show c.-1255_-1254insACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTC CATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCC AGGGGCTGGGACTAG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1232		chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231415	A A	ACTAGTCC others(92): Show ACTAGTCCCAGTCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCC AGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18985.hp2 NA19009.hp2 others(1): Show NA18962.hp2 NA18985.hp2 NA19009.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	4	344	0.0116	99	c.-12 others(110): Show c.-1255_-1254insACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTC CATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCC GGGGACTGGGACTAG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1232		chr16	TogoVar
TRDN_chr6_123211339_123641950	123603161	G G	GTGTGCTA others(92): Show GTGTGCTAGTTTCCTAGTGTAATCAGCACCAAAAAAAAAAAAAAAAAGGC ATTAAACAAGAGAAGAATGCTTGTGTTTCTGAGTTTGTTTTTTCATGAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01255.hp1 others(22): Show HG00621.hp1 HG01109.hp2 HG01255.hp1 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03669.hp1 NA18906.hp2 NA18944.hp2 NA18955.hp2 NA18962.hp2 NA19030.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0008 a0011 a0012 a0020	a0001c0001 a0001c0002 a0002c0004 others(8): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005 a0003c0003 a0005c0007 a0007c0010 a0008c0008 a0011c0013 a0012c0017 a0020c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0004t0001 a0002c0005t0001 a0003c0003t0002 a0003c0003t0009 a0005c0007t0002 a0007c0010t0005 a0008c0008t0006 a0011c0013t0003 a0012c0017t0002 a0020c0031t0001	a0001c0001t0001g0141 a0001c0001t0003g0078 a0001c0001t0004g0140 others(22): Show a0001c0001t0001g0141 a0001c0001t0003g0078 a0001c0001t0004g0140 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0018g0029 a0001c0002t0001g0074 a0001c0002t0001g0139 a0001c0002t0002g0038 a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0065 a0002c0004t0001g0048 a0002c0005t0001g0063 a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0009g0005 a0003c0003t0009g0007 a0005c0007t0002g0004 a0007c0010t0005g0079 a0008c0008t0006g0010 a0011c0013t0003g0027 a0012c0017t0002g0028 a0020c0031t0001g0138	25	152	0.1645	99	c.23- others(116): Show c.23-32030_23-32029insATTCATGAAAAAACAAACTCAGAAACAC AAGCATTCTTCTCTTGTTTAATGCCTTTTTTTTTTTTTTTTTGGTGCTGA TTACACTAGGAAACTAGCACA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	1/40			chr6	TogoVar
TRIM2_chr4_153199443_153344317	153244319	C C	CTCCTCTT others(92): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	268	0.0037	99	c.31- others(116): Show c.31-26014_31-26013insCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151711	G G	GGGGTGAG others(92): Show GGGGTGAGAAGGGGAGTGAGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	228	0.0044	99	c.43 others(110): Show c.4339_*4340insGGGTGAGAAGGGGAGTGAGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3969		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151823	T T	TGAGAGAG others(92): Show TGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0167	1	228	0.0044	99	c.44 others(110): Show c.4451_*4452insGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4081		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151827	A A	AGTGGGGG others(92): Show AGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18997.hp2 NA19079.hp2 NA18612.hp1 NA18997.hp2 NA19079.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0019 a0001c0001 a0013c0019	a0001c0001t0001 a0013c0019t0001 a0001c0001t0001 a0013c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0099 a0013c0019t0001g0103 a0001c0001t0001g0005 a0001c0001t0001g0099 a0013c0019t0001g0103	3	228	0.0132	99	c.44 others(110): Show c.4455_*4456insGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4085		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152209	A A	AGGGGGTG others(92): Show AGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	228	0.0044	99	c.48 others(110): Show c.4837_*4838insGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4467		chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(92): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp1 HG04184.hp2 HG00099.hp1 HG01169.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0002 a0001c0002t0073 a0001c0001t0047 a0001c0002t0002 a0001c0002t0073	a0001c0001t0047g0059 a0001c0002t0002g0040 a0001c0002t0073g0039 a0001c0001t0047g0059 a0001c0002t0002g0040 a0001c0002t0073g0039	3	174	0.0172	99	c.41- others(116): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN11_chr12_30921748_31001599	30933300	T T	TGACATTA others(92): Show TGACATTAATCTTCCCTCCATGTATGTGACAGCCAACCCCCAAACCAGGA CACTGGCTCAGATAGGTTAGGTGACCTGCCCAAGGTCCTGCAGCCAGTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(89): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0006 a0004c0018 a0005c0011 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0001t0043 a0001c0001t0048 a0001c0001t0055 a0001c0001t0063 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0002c0002t0024 a0002c0002t0025 a0002c0002t0061 a0002c0002t0066 a0002c0002t0072 a0002c0002t0073 a0002c0002t0075 a0002c0004t0005 a0002c0004t0017 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0010 a0003c0003t0052 a0003c0003t0062 a0004c0006t0001 a0004c0006t0007 a0004c0018t0007 a0005c0011t0002 a0013c0019t0011	a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0165 others(88): Show a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0382 a0001c0001t0002g0126 a0001c0001t0002g0163 a0001c0001t0002g0233 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0350 a0001c0001t0002g0359 a0001c0001t0003g0151 a0001c0001t0003g0266 a0001c0001t0004g0277 a0001c0001t0005g0278 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0173 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0008g0129 a0001c0001t0009g0156 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0271 a0001c0001t0010g0127 a0001c0001t0010g0273 a0001c0001t0012g0145 a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0164 a0001c0001t0023g0170 a0001c0001t0027g0022 a0001c0001t0027g0023 a0001c0001t0032g0268 a0001c0001t0033g0253 a0001c0001t0040g0255 a0001c0001t0043g0256 a0001c0001t0048g0259 a0001c0001t0055g0172 a0001c0001t0063g0133 a0002c0002t0001g0120 a0002c0002t0001g0142 a0002c0002t0001g0157 a0002c0002t0003g0168 a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0143 a0002c0002t0006g0132 a0002c0002t0006g0250 a0002c0002t0006g0254 a0002c0002t0007g0005 a0002c0002t0007g0128 a0002c0002t0007g0140 a0002c0002t0007g0141 a0002c0002t0007g0144 a0002c0002t0007g0150 a0002c0002t0007g0251 a0002c0002t0012g0384 a0002c0002t0024g0155 a0002c0002t0025g0139 a0002c0002t0061g0252 a0002c0002t0066g0167 a0002c0002t0072g0153 a0002c0002t0073g0160 a0002c0002t0075g0149 a0002c0004t0005g0272 a0002c0004t0017g0152 a0003c0003t0005g0054 a0003c0003t0006g0166 a0003c0003t0006g0232 a0003c0003t0006g0270 a0003c0003t0008g0263 a0003c0003t0008g0264 a0003c0003t0009g0162 a0003c0003t0010g0161 a0003c0003t0052g0349 a0003c0003t0062g0265 a0004c0006t0001g0134 a0004c0006t0001g0136 a0004c0006t0007g0137 a0004c0018t0007g0135 a0005c0011t0002g0260 a0013c0019t0011g0171	92	394	0.2335	99	c.-12 others(116): Show c.-12+6538_-12+6636dupAACCCCCAAACCAGGACACTGGCTCAGA TAGGTTAGGTGACCTGCCCAAGGTCCTGCAGCCAGTAAGACATTAATCTT CCCTCCATGTATGTGACAGCC	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC5_chr14_20281227_20310951	20310309	G G	GCCCCCCA others(92): Show GCCCCCCACCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0040 a0002c0004t0040	a0002c0004t0040g0200 a0002c0004t0040g0200	1	416	0.0024	99	c.-43 others(110): Show c.-4373_-4372insGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTC TGGCCGGGTGGGGGG	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4359		chr14	TogoVar
TTC5_chr14_20281227_20310951	20310347	T T	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG01255.hp1 HG02559.hp1 HG02572.hp2 HG03041.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0012 a0002c0003t0007 a0002c0003t0012	a0002c0003t0007g0154 a0002c0003t0007g0155 a0002c0003t0007g0168 others(2): Show a0002c0003t0007g0154 a0002c0003t0007g0155 a0002c0003t0007g0168 a0002c0003t0012g0212 a0002c0003t0012g0213	5	416	0.0120	99	c.-44 others(110): Show c.-4411_-4410insCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4397		chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACAC others(92): Show ACACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACACACCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	338	0.0030	99	c.35 others(118): Show c.35+21411_*35+21412insCACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACA CACCCCACACACACCACACCCCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870330	A A	ACACCACC others(92): Show ACACCACCCCACACACCACACACACACACACCACACACCCACACACACAT CACATACCACACACACACCACACCCCATACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	338	0.0030	99	c.35 others(118): Show c.35+21600_*35+21601insCACCCCACACACCACACACACACACA CCACACACCCACACACACATCACATACCACACACACACCACACCCCATAC ACACCACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870988	C C	CCCCATAC others(92): Show CCCCATACACACCACACCCCACACACACCACACCCCATACACACCACACA CCCCACACACACCACACACCACACCCCATACACACCACACCCCACACACA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	338	0.0030	99	c.35 others(118): Show c.35+22255_*35+22256insCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACACCACACCCC ATACACACCACACCCCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871097	C C	CACACACA others(92): Show CACACACACCACACACCCCACACACACCACACACCCCACACACCCTACAC ACCCCACACACACCACACACACACATCACATACCACACACACACCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00673.hp2 others(9): Show HG00408.hp1 HG00544.hp2 HG00673.hp2 HG01109.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 NA18941.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0150 a0001c0001t0001g0277 a0001c0001t0002g0045 a0001c0001t0002g0071 a0001c0001t0002g0128 a0001c0001t0002g0153 a0001c0001t0003g0020 a0001c0001t0003g0043 a0001c0001t0003g0079	12	338	0.0355	99	c.35 others(118): Show c.35+22364_*35+22365insACACACACCACACACCCCACACACAC CACACACCCCACACACCCTACACACCCCACACACACCACACACACACATC ACATACCACACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE2J1_chr6_89321625_89357722	89339641	T T	TGGGGGAG others(92): Show TGGGGGAGGAGGAAGGAGGGGGGGAGGAGGGAAGGAGGGGAGGGGGAAGG GGAGGGGAGGAGGGAAGGAGAGGGGAGGGGGGAGGGGACGGGGAGGAGAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	410	0.0024	99	c.238 others(116): Show c.238-1099_238-1098insGTCTCCTCCCCGTCCCCTCCCCCCTCCC CTCTCCTTCCCTCCTCCCCTCCCCTTCCCCCTCCCCTCCTTCCCTCCTCC CCCCCTCCTTCCTCCTCCCCC	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7			chr6	TogoVar
UBE2J1_chr6_89321625_89357722	89339641	T T	TGGGGGAG others(92): Show TGGGGGAGGAGGGAAGGAGGGGGGAGGAGGGAAGGAGGGGAGGGGGAAGG GGAGGGGAGGAGGGAAGGAGAGGGGAGGGGGGAGGGGACGGGGAGGAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02809.hp1 others(6): Show HG02257.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0002 a0001c0001t0007 a0002c0002t0002	a0001c0001t0007g0014 a0001c0001t0007g0037 a0001c0001t0007g0242 others(3): Show a0001c0001t0007g0014 a0001c0001t0007g0037 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0002c0002t0002g0127	9	410	0.0220	99	c.238 others(116): Show c.238-1099_238-1098insGTCTCCTCCCCGTCCCCTCCCCCCTCCC CTCTCCTTCCCTCCTCCCCTCCCCTTCCCCCTCCCCTCCTTCCCTCCTCC CCCCTCCTTCCCTCCTCCCCC	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7			chr6	TogoVar
UBE2U_chr1_64198623_64272368	64239045	A A	AAAGAAGA others(92): Show AAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGA AGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	330	0.0030	99	c.596 others(116): Show c.596-2591_596-2590insGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239071	A A	AGAGGAAG others(92): Show AGAGGAAGAAGAAGAGGAAGAAGAGGAAGAGGAAGAGGAGGAAGAGGAGG AAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	330	0.0030	99	c.596 others(116): Show c.596-2573_596-2572insAGAAGAGGAAGAAGAGGAAGAGGAAGAG GAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGA AGAGGAGGAAGAGGAGGAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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